Purpose

The reason for doing this research is to study the nature diagnosis and treatment of individuals affected with the genetic disease Fanconi anemia an inherited disorder that leads to bone marrow failure (aplastic anemia). In most cases it is a recessive disorder: if both parents carry a defect (mutation) in the same Fanconi anemia gene each of their children has a 25hance of inheriting the defective gene from both parents. When this happens the child will have Fanconi anemia. Patients may have a variety of birth defects and may eventually develop acute myelogenous leukemia (AML) head and neck gynecological and/or gastrointestinal cancer. The researchers doing the study will collect information about the medical history genetics clinical course blood test results treatment complications and social issues of Fanconi anemia. Information about relatives of Fanconi anemia patients will also be collected. A purpose of this project is to develop a detailed listing or `registry' of people who may have Fanconi anemia and their close family members. Tissue samples are collected in a repository in order to study the genotype of the study subjects for geneotype/phenotype correlation and to understand why the disease develops. We hypothesize that correlation between genotype and phenotype will define parts of the Fanconi anemia genes that function in cell cycle control apoptosis and DNA repair leading to birth defects and cancer when mutated.

Condition

Eligibility

Eligible Ages
Between 0 and 100
Eligible Genders
All
Accepts Healthy Volunteers
Yes

Study Design

Phase
Study Type
Observational

More Details

Status
Recruiting
Sponsor
Rockefeller University

Study Contact

Recruitment Office
8007822737
rucares@rockefeller.edu

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.